Variant report

Variant	rs529541725
Chromosome Location	chr2:96730064-96730065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96729388..96731079-chr2:96873291..96874910,2	K562	blood:
2	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1837811	chr2:96622689-96730375	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1836563	chr2:96669134-96730375	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv993391	chr2:96671521-96731854	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	esv3451590	chr2:96726925-96732923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv14131	chr2:96727246-96733710	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3365032	chr2:96727825-96732623	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3390514	chr2:96728125-96732823	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv14510	chr2:96729895-96731750	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv821512	chr2:96729895-96731750	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96726400-96730800	Weak transcription	Spleen	Spleen
2	chr2:96726400-96731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:96726600-96731000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:96727200-96730200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:96727200-96730400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:96728600-96730200	Enhancers	HSMM	muscle
9	chr2:96728800-96730200	Enhancers	Brain Angular Gyrus	brain
10	chr2:96729000-96730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:96729200-96730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:96729200-96730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:96729200-96730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:96729400-96730200	Enhancers	HSMMtube	muscle
15	chr2:96729400-96734000	Weak transcription	A549	lung
16	chr2:96729600-96731000	Weak transcription	HepG2	liver
17	chr2:96729600-96731600	Weak transcription	Hela-S3	cervix
18	chr2:96729600-96733400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:96729600-96733800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:96729600-96733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:96729600-96734000	Weak transcription	HMEC	breast
22	chr2:96730000-96730200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:96730000-96733800	Weak transcription	Brain Hippocampus Middle	brain

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